U2SURP

Summary

U2SURP (U2 snRNP associated SURP domain containing, HGNC:30855) is a protein-coding gene on chromosome 3q23, encoding U2 snRNP-associated SURP motif-containing protein (O15042). It is a common-essential gene (DepMap: required in 99.4% of cancer cell lines).

Enables RNA binding activity. Predicted to be involved in RNA processing. Located in nucleoplasm.

Source: NCBI Gene 23350 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 89 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 99.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_001080415

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30855
Approved symbol	U2SURP
Name	U2 snRNP associated SURP domain containing
Location	3q23
Locus type	gene with protein product
Status	Approved
Aliases	fSAPa, SR140
Ensembl gene	ENSG00000163714
Ensembl biotype	protein_coding
OMIM	617849
Entrez	23350

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 10 protein_coding, 8 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000461591, ENST00000461844, ENST00000463563, ENST00000465175, ENST00000467348, ENST00000470400, ENST00000472373, ENST00000473835, ENST00000480029, ENST00000485374, ENST00000488497, ENST00000488587, ENST00000491827, ENST00000493598, ENST00000493782, ENST00000496100, ENST00000600150, ENST00000882742, ENST00000922052, ENST00000942124, ENST00000942125

RefSeq mRNA: 4 — MANE Select: NM_001080415 NM_001080415, NM_001320219, NM_001320220, NM_001320222

CCDS: CCDS46928

Canonical transcript exons

ENST00000473835 — 28 exons

Exon	Start	End
ENSE00001077596	143023975	143024018
ENSE00001811797	143001570	143001673
ENSE00001931211	143056312	143060725
ENSE00003458566	143034888	143034975
ENSE00003472822	143037179	143037335
ENSE00003480330	143053676	143053794
ENSE00003489333	143021350	143021385
ENSE00003511312	143033271	143033350
ENSE00003515588	143032784	143032946
ENSE00003526777	143020599	143020693
ENSE00003536160	143038894	143038960
ENSE00003544123	143019969	143020036
ENSE00003547862	143028340	143028406
ENSE00003557743	143022497	143022662
ENSE00003568905	143010815	143010859
ENSE00003572196	143027149	143027253
ENSE00003583406	143022853	143023064
ENSE00003591154	143043117	143043276
ENSE00003596517	143050939	143051049
ENSE00003637195	143035982	143036104
ENSE00003642016	143021473	143021555
ENSE00003666108	143028483	143028646
ENSE00003670424	143038108	143038203
ENSE00003686693	143016842	143016975
ENSE00003689855	143054943	143055119
ENSE00003700950	143014311	143014409
ENSE00003758788	143012222	143012353
ENSE00003785337	143016257	143016371

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.3162 / max 918.6313, expressed in 1806 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
38970	43.8855	1805
38969	0.3832	186
202954	0.0475	16

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	99.03	gold quality
sural nerve	UBERON:0015488	97.57	gold quality
adrenal tissue	UBERON:0018303	97.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	97.07	gold quality
colonic epithelium	UBERON:0000397	96.53	gold quality
ventricular zone	UBERON:0003053	96.30	gold quality
cartilage tissue	UBERON:0002418	95.87	gold quality
left ovary	UBERON:0002119	95.74	gold quality
tibial nerve	UBERON:0001323	95.64	gold quality
tendon	UBERON:0000043	95.38	gold quality
ganglionic eminence	UBERON:0004023	95.30	gold quality
right ovary	UBERON:0002118	95.27	gold quality
embryo	UBERON:0000922	95.18	gold quality
bone marrow cell	CL:0002092	95.01	gold quality
ovary	UBERON:0000992	94.96	gold quality
rectum	UBERON:0001052	94.87	gold quality
right uterine tube	UBERON:0001302	94.82	gold quality
monocyte	CL:0000576	94.74	gold quality
body of pancreas	UBERON:0001150	94.70	gold quality
mononuclear cell	CL:0000842	94.66	gold quality
endocervix	UBERON:0000458	94.63	gold quality
bone marrow	UBERON:0002371	94.51	gold quality
body of uterus	UBERON:0009853	94.51	gold quality
corpus callosum	UBERON:0002336	94.49	gold quality
trabecular bone tissue	UBERON:0002483	94.42	gold quality
tibia	UBERON:0000979	94.41	gold quality
adenohypophysis	UBERON:0002196	94.40	gold quality
leukocyte	CL:0000738	94.37	gold quality
cortical plate	UBERON:0005343	94.29	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.20	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-9689	no	448.07
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

279 targeting U2SURP, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4650-5P	99.98	64.69	999

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.4% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 2)

• Study observed that CHERP and its binding partner SR140 are significantly upregulated in human clinical colorectal cancer tissues (CRC) and clarified how CHERP/SR140 exert an oncogenic role in CRC development partially through regulating expression of UPF3A variants. (PMID:30977118)
• MYC-driven U2SURP regulates alternative splicing of SAT1 to promote triple-negative breast cancer progression. (PMID:36907504)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	u2surp	ENSDARG00000061490
mus_musculus	U2surp	ENSMUSG00000032407
rattus_norvegicus	U2surp	ENSRNOG00000008607
drosophila_melanogaster	CG9346	FBGN0034572
caenorhabditis_elegans		WBGENE00015581

Protein

Protein identifiers

U2 snRNP-associated SURP motif-containing protein — O15042 (reviewed: O15042)

Alternative names: 140 kDa Ser/Arg-rich domain protein, U2-associated protein SR140

All UniProt accessions (8): C9J5L1, C9JDJ7, E7ET15, E7EW00, O15042, H0Y8D9, H7C4V2, U3KPT1

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with ERBB4.

Subcellular location. Nucleus.

Similarity. Belongs to the splicing factor SR family.

Isoforms (3)

UniProt ID	Names	Canonical?
O15042-1	1	yes
O15042-2	2
O15042-3	3

RefSeq proteins (4): NP_001073884, NP_001307148, NP_001307149, NP_001307151 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000061	Surp	Domain
IPR000504	RRM_dom	Domain
IPR006569	CID_dom	Domain
IPR008942	ENTH_VHS	Homologous_superfamily
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR013170	mRNA_splic_Cwf21_dom	Domain
IPR035009	SR140_RRM	Domain
IPR035967	SWAP/Surp_sf	Homologous_superfamily
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR047488	SR140_cwf21	Domain
IPR051485	SR-CTD_assoc_factor	Family

Pfam: PF00076, PF01805, PF04818, PF08312

UniProt features (51 total): compositionally biased region 13, modified residue 13, cross-link 10, region of interest 4, coiled-coil region 3, splice variant 3, domain 2, initiator methionine 1, chain 1, repeat 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9ZE0	ELECTRON MICROSCOPY	3.43
9ZE3	ELECTRON MICROSCOPY	3.93
9R8V	ELECTRON MICROSCOPY	8.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15042-F1	64.80	0.28

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (23): 2, 67, 202, 236, 485, 719, 760, 788, 800, 811, 931, 946, 948, 80, 145, 168, 208, 748, 749, 760 …

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-9770562	mRNA Polyadenylation
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-9943411	CHD1 and CHD2 subfamily
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 237 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GNF2_MSH2, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GNF2_MCM5, PATIL_LIVER_CANCER, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GNF2_XRCC5, GNF2_FBL, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, REACTOME_MRNA_SPLICING, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GNF2_TDG, GNF2_ELAC2

GO Biological Process (1): RNA processing (GO:0006396)

GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), U2 snRNP (GO:0005686)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
mRNA Splicing	1
mRNA 3’-end processing	1
Dengue Virus Infection	1
CHD chromatin remodelers	1
Processing of Capped Intron-Containing Pre-mRNA	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
nucleic acid binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
spliceosomal snRNP complex	1

Protein interactions and networks

STRING

1610 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
U2SURP	CHERP	Q8IWX8	853
U2SURP	RBM17	Q96I25	789
U2SURP	SF3A2	Q15428	614
U2SURP	SNRPA	P09012	604
U2SURP	SF3B3	Q15393	581
U2SURP	SF3A3	Q12874	540
U2SURP	DHX15	O43143	516
U2SURP	CCDC97	Q96F63	505
U2SURP	U2AF2	P26368	503
U2SURP	SUGP1	Q8IWZ8	480
U2SURP	SF3B1	O75533	471
U2SURP	ZNF518A	Q6AHZ1	464
U2SURP	GPATCH11	Q8N954	451
U2SURP	HNRNPM	P52272	447
U2SURP	ZNF550	Q7Z398	437

IntAct

218 interactions, top by confidence:

A	B	Type	Score
SNRPF	GEMIN2	psi-mi:“MI:0914”(association)	0.910
MED29	MED19	psi-mi:“MI:0914”(association)	0.890
MED9	MED19	psi-mi:“MI:0914”(association)	0.790
SNRPE	GEMIN2	psi-mi:“MI:0914”(association)	0.770
RBM17	U2SURP	psi-mi:“MI:0914”(association)	0.740
MED19	MED19	psi-mi:“MI:0914”(association)	0.730
COMMD1	VPS26C	psi-mi:“MI:0914”(association)	0.730
COMMD4	VPS26C	psi-mi:“MI:0914”(association)	0.730
SNRPB	PRMT5	psi-mi:“MI:0914”(association)	0.670
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
COMMD6	VPS26C	psi-mi:“MI:0914”(association)	0.640
SF3B1	SAP18	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
QPRT	PIK3C2A	psi-mi:“MI:0914”(association)	0.640
SNRPA1	U2SURP	psi-mi:“MI:0914”(association)	0.640
U2SURP	CHERP	psi-mi:“MI:0915”(physical association)	0.560
NCBP3	SAP18	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
SNRPE	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
GSPT2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
KRR1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
SNRPE	PRMT5	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
PURG	U2SURP	psi-mi:“MI:0914”(association)	0.530
GNL3	IPO5	psi-mi:“MI:0914”(association)	0.480
U2AF2	U2SURP	psi-mi:“MI:0914”(association)	0.480

BioGRID (462): U2SURP (Affinity Capture-MS), U2SURP (Affinity Capture-MS), U2SURP (Affinity Capture-MS), U2SURP (Affinity Capture-MS), U2SURP (Affinity Capture-MS), U2SURP (Affinity Capture-MS), U2SURP (Affinity Capture-MS), U2SURP (Affinity Capture-MS), U2SURP (Co-fractionation), U2SURP (Co-fractionation), U2SURP (Affinity Capture-MS), U2SURP (Affinity Capture-MS), U2SURP (Affinity Capture-MS), U2SURP (Affinity Capture-MS), U2SURP (Affinity Capture-MS)

ESM2 similar proteins: A0A1I8M2I8, A8WT19, B3MJ69, B3N3F7, B4H732, B4II37, B4J497, B4KLY7, B4LIK8, B4MR46, B4NYV0, B4QCR6, O15042, O94880, P0CM96, P0CM97, P0DP78, P0DP79, P0DP80, P0DP81, Q08C72, Q08DZ2, Q13523, Q17336, Q20448, Q24168, Q28WQ8, Q4PCY0, Q4WKB9, Q52B63, Q52KN9, Q5R7X2, Q5R814, Q5RA93, Q5RKH1, Q5TUF1, Q5ZKA3, Q61136, Q6C8C5, Q6DE96

Diamond homologs: A2VDN6, B9DHA6, G1SK22, O13900, O14399, O15042, P05759, P0C016, P0C030, P0C031, P0C032, P0C073, P0C8R3, P0CG71, P0CG73, P0CG81, P0CG82, P0CG83, P0CG84, P0CG85, P0CG86, P0CG87, P0CH04, P0CH05, P0CH10, P0CH11, P0CH27, P0CH32, P0CH33, P0CH34, P0CH35, P0DJ25, P12297, P14795, P14799, P15357, P19848, P23324, P23398, P27923

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 207 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Metabolism of non-coding RNA	6	25.7×	1e-06
mRNA Splicing - Minor Pathway	13	19.7×	4e-12
SARS-CoV-2 modulates host translation machinery	12	18.2×	5e-11
mRNA Polyadenylation	29	17.2×	9e-26
SARS-CoV-1 modulates host translation machinery	8	16.7×	5e-07
mRNA Splicing	22	16.3×	5e-19
RNA Polymerase II Transcription Termination	11	16.3×	1e-09
Transport of Mature Transcript to Cytoplasm	6	15.4×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
U2-type prespliceosome assembly	12	39.4×	2e-14
spliceosomal complex assembly	9	28.5×	2e-09
alternative mRNA splicing, via spliceosome	7	24.8×	1e-06
negative regulation of mRNA splicing, via spliceosome	6	24.2×	1e-05
RNA splicing, via transesterification reactions	6	19.7×	5e-05
spliceosomal snRNP assembly	6	18.4×	6e-05
cytoplasmic translation	16	15.6×	1e-12
mRNA stabilization	7	13.5×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

89 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	60
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3572 predictions. Top by Δscore:

Variant	Effect	Δscore
3:143001671:AAG:A	donor_loss	1.0000
3:143001673:GG:G	donor_loss	1.0000
3:143001674:G:A	donor_loss	1.0000
3:143010803:T:TA	acceptor_gain	1.0000
3:143010813:A:AG	acceptor_gain	1.0000
3:143010814:G:GG	acceptor_gain	1.0000
3:143010814:GAC:G	acceptor_gain	1.0000
3:143010857:CAT:C	donor_gain	1.0000
3:143010857:CATGT:C	donor_loss	1.0000
3:143010858:AT:A	donor_gain	1.0000
3:143010859:TGT:T	donor_loss	1.0000
3:143010860:G:A	donor_loss	1.0000
3:143010860:G:GG	donor_gain	1.0000
3:143010861:T:TC	donor_loss	1.0000
3:143010862:GAGTA:G	donor_loss	1.0000
3:143012203:T:TA	acceptor_gain	1.0000
3:143012209:A:AG	acceptor_gain	1.0000
3:143012217:T:TA	acceptor_gain	1.0000
3:143012220:A:AG	acceptor_gain	1.0000
3:143012221:G:GG	acceptor_gain	1.0000
3:143012221:GA:G	acceptor_gain	1.0000
3:143012349:CAAGA:C	donor_gain	1.0000
3:143012350:AAGA:A	donor_gain	1.0000
3:143012351:AGA:A	donor_gain	1.0000
3:143012352:GA:G	donor_gain	1.0000
3:143012352:GAG:G	donor_gain	1.0000
3:143012353:AGTG:A	donor_loss	1.0000
3:143012354:G:GG	donor_gain	1.0000
3:143012356:GAGTA:G	donor_loss	1.0000
3:143012358:G:C	donor_loss	1.0000

AlphaMissense

6815 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:143016269:G:C	A112P	1.000
3:143016272:G:C	A113P	1.000
3:143016275:G:C	A114P	1.000
3:143016284:T:G	Y117D	1.000
3:143016293:T:A	F120I	1.000
3:143016293:T:C	F120L	1.000
3:143016293:T:G	F120V	1.000
3:143016294:T:C	F120S	1.000
3:143016294:T:G	F120C	1.000
3:143016295:T:A	F120L	1.000
3:143016295:T:G	F120L	1.000
3:143016297:T:C	L121P	1.000
3:143016299:G:C	A122P	1.000
3:143016302:G:C	A123P	1.000
3:143016305:T:C	F124L	1.000
3:143016306:T:C	F124S	1.000
3:143016306:T:G	F124C	1.000
3:143016307:T:A	F124L	1.000
3:143016307:T:G	F124L	1.000
3:143016338:T:C	F135L	1.000
3:143016339:T:C	F135S	1.000
3:143016339:T:G	F135C	1.000
3:143016340:T:A	F135L	1.000
3:143016340:T:G	F135L	1.000
3:143016342:T:A	V136E	1.000
3:143016348:G:A	G138E	1.000
3:143020009:T:C	L204S	1.000
3:143020009:T:G	L204W	1.000
3:143020011:G:A	E205K	1.000
3:143020015:T:C	L206P	1.000

dbSNP variants (sampled 300 via entrez): RS1000027194 (3:143054358 A>C,G,T), RS1000027376 (3:143059570 A>C,T), RS1000028725 (3:143044725 A>G), RS1000055500 (3:143037084 G>A), RS1000058283 (3:143054045 C>G,T), RS1000064106 (3:143052547 G>A), RS1000069013 (3:143011122 CTATACT>C), RS1000090937 (3:143001999 C>A,T), RS1000130507 (3:143051471 T>C), RS1000188448 (3:143006396 T>G), RS1000198071 (3:143006095 G>C), RS1000215283 (3:143047885 C>CA,CT), RS1000256394 (3:143038539 A>G), RS1000278110 (3:143018325 A>G), RS1000293380 (3:143041338 T>C)

Disease associations

OMIM: gene MIM:617849 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST008971_75	Urate levels	4.000000e-07
GCST008972_6	Urate levels	1.000000e-08
GCST90002385_440	High light scatter reticulocyte count	4.000000e-15
GCST90002386_564	High light scatter reticulocyte percentage of red cells	2.000000e-13
GCST90002387_82	Immature fraction of reticulocytes	4.000000e-22
GCST90002395_391	Mean platelet volume	7.000000e-17
GCST90013406_126	Liver enzyme levels (alkaline phosphatase)	3.000000e-15

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0007986	reticulocyte count
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725087 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

6 potent at pChembl≥5 of 6 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.71	Kd	19.41	nM	CHEMBL3752910
7.71	ED50	19.41	nM	CHEMBL3752910
7.44	Kd	36	nM	MOLIBRESIB
7.40	IC50	40	nM	MOLIBRESIB
5.72	Kd	1911	nM	CHEMBL5653589
5.72	ED50	1911	nM	CHEMBL5653589

PubChem BioAssay actives

4 with measured affinity, of 11 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149699: Binding affinity to human U2SURP incubated for 45 mins by Kinobead based pull down assay	kd	0.0194	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179190: Binding affinity against SR140 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.0360	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149699: Binding affinity to human U2SURP incubated for 45 mins by Kinobead based pull down assay	kd	1.9110	uM

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
bisphenol A	decreases expression, decreases methylation, increases expression	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
TAK-243	decreases sumoylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	decreases expression	1
beta-lapachone	decreases expression	1
methylparaben	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
hinokiflavone	increases sumoylation	1
di-n-butylphosphoric acid	affects expression	1
yessotoxin	decreases expression	1
bisphenol B	increases expression	1
PP242	decreases expression	1
bisphenol AF	increases expression	1
Sunitinib	increases expression	1
Vorinostat	decreases expression	1
Acetaminophen	decreases expression	1
Caffeine	affects phosphorylation	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Demecolcine	decreases expression, increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ethyl Methanesulfonate	decreases expression	1
Fluorouracil	decreases expression	1
Formaldehyde	decreases expression	1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652741	Binding	Binding affinity to human U2SURP incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.